Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

• Main Authors: Iskandar, Kristy, Sunartini, Sunartini, Astari, Farida Niken, Gumilang, Rizki Amalia, Ilma, Nissya, Shartyanie, Ni Putu, Adistyawan, Guritno, Tan, Grace, Gunadi, Gunadi, Lai, Poh San
• Format: Article PeerReviewed
• Language: English
• Published: Springer 2022
• Subjects: Clinical Sciences
• Online Access: https://repository.ugm.ac.id/278707/1/Iskandar_KKMK.pdf; https://repository.ugm.ac.id/278707/; https://bmcpediatr.biomedcentral.com/about; https://doi.org/10.1186/s12887-022-03662-y
• Institution: Universitas Gadjah Mada

Background: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes EDMD, also causes many other diseases. There is...